Article
Discrepancies in reporting the CAG repeat lengths for Huntington's disease.
European journal of human genetics : EJHG - 1 Jan 2012
Quarrell Oliver W, Handley Olivia, O'Donovan Kirsty, Dumoulin Christine, Ramos-Arroyo Maria, Biunno Ida, Bauer Peter, Kline Margaret, Landwehrmeyer G Bernhard
Abstract excerpt
Huntington's disease results from a CAG repeat expansion within the Huntingtin gene; this is measured routinely in diagnostic laboratories. The European Huntington's Disease Network REGISTRY project centrally measures CAG repeat lengths on fresh samples; these were compared with the original results from 121 laboratories across 15 countries. We report on 1326 duplicate results; a discrepancy in reporting the...
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